ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.2913C>T (p.Cys971=)

gnomAD frequency: 0.00328  dbSNP: rs61757651
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651150 SCV000773000 benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2024-01-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151124 SCV003839307 likely benign not specified 2022-12-14 no assertion criteria provided clinical testing

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